PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron


Morgan N. V. , Westaway S. K. , Morton J. E. V. , Gregory A., Gissen P., Sonek S., ...More

NATURE GENETICS, vol.38, no.7, pp.752-754, 2006 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 7
  • Publication Date: 2006
  • Doi Number: 10.1038/ng1826
  • Title of Journal : NATURE GENETICS
  • Page Numbers: pp.752-754

Abstract

Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy ( INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.